MCID: PSD012
MIFTS: 56

Pseudoachondroplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Pseudoachondroplasia

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pseudoachondroplasia:

Name: Pseudoachondroplasia 49 10 11 21 45 22 23 12 51 67 65
Pseudoachondroplastic Dysplasia 10 45 22 23 51 67
Psach 21 45 22 23 47 67
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 45 23
 
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic 10 45
Pseudoachondroplastic Spondyloepiphyseal Dysplasia 45 51
Spondyloepiphyseal Dysplasia Pseudoachondroplastic 67 24

Characteristics:

Orphanet epidemiological data:

51
pseudoachondroplasia:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
pseudoachondroplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 177170
Disease Ontology10 DOID:0080047
Orphanet51 750
ICD10 via Orphanet28 Q77.8
MESH via Orphanet37 C535819
UMLS via Orphanet66 C0410538
MedGen34 C0410538
MeSH36 D010009
UMLS65 C0410538

Summaries for Pseudoachondroplasia

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NIH Rare Diseases:45 Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. intelligence, facial features and head size are normal. pseudoachondroplasia is caused by mutations in the comp gene. this condition is inherited in an autosomal dominant pattern. last updated: 1/19/2011

MalaCards based summary: Pseudoachondroplasia, also known as pseudoachondroplastic dysplasia, is related to pseudoachondroplastic dysplasia 2 and endometrial cancer, and has symptoms including abnormality of the hip bone, micromelia and delayed skeletal maturation. An important gene associated with Pseudoachondroplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways are Gastric cancer network 2 and Defective B4GALT1 causes B4GALT1-CDG (CDG-2d). Affiliated tissues include bone, thyroid and endothelial, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Disease Ontology:10 An osteochondrodysplasia that has material basis in mutations in the COMP gene which results in short limb dwarfism.

UniProtKB/Swiss-Prot:67 Pseudoachondroplasia: A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease.

Genetics Home Reference:23 Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.

OMIM:49 Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature,... (177170) more...

Wikipedia:68 Pseudoachondroplasia is a type of short-limb dwarfism. It is a genetic autosomal dominant disorder. It... more...

GeneReviews summary for NBK1487

Related Diseases for Pseudoachondroplasia

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Diseases related to Pseudoachondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 138)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoachondroplastic dysplasia 211.4
2endometrial cancer10.5
3angina pectoris10.3
4severe combined immunodeficiency10.3
5cervicitis10.3
6opiate dependence10.3ACAN, COMP
7immunodeficiency 3010.2COMP, SCN8A
8familial atrial fibrillation10.2COL9A2, COMP, SLC26A2
9brachydactyly, type a1, c10.2COL2A1, COMP
10vulvar melanoma10.2ACAN, COMP
11lymphoma10.1
12arteriosclerosis10.1
13pancreatitis10.1
14arteriosclerosis obliterans10.1
15neuropathy10.1
16aneurysm10.1
17epiphyseal dysplasia, multiple, 410.1DCN, SLC26A2
18diphtheritic cystitis10.1COL2A1, COL9A3
19vitreoretinochoroidopathy dominant10.1COL2A1, COL9A2
20exercise-induced hyperinsulinism10.1COL9A1, COL9A2, COL9A3
21odontoma10.1ACAN, DCN
22intervertebral disc disease10.1COL9A2, COL9A3
23hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome10.1COL9A1, COL9A2, COL9A3
24macrogyria, pseudobulbar palsy and mental retardation10.1COL2A1, COL9A1
25ischemic bone disease10.0ACAN, COL9A2, COL9A3
26gingival fibromatosis10.0ACAN, COL9A1, COL9A2
27osteonecrosis10.0ACAN, COL2A1
28atelosteogenesis ii10.0COL2A1, COMP, SLC26A2
29myocardial infarction10.0
30neural tube defects10.0
31lung cancer10.0
32ovarian hyperstimulation syndrome10.0
33asthma10.0
34allergic rhinitis10.0
35otitis media10.0
36li-fraumeni syndrome10.0
37pancreatic cancer10.0
38cryptorchidism10.0
39acute liver failure10.0
40alopecia10.0
41brain ischemia10.0
42bronchiolitis obliterans10.0
43diabetic neuropathy10.0
44hematopoietic stem cell transplantation10.0
45hypoplastic left heart syndrome10.0
46liver cirrhosis10.0
47tongue squamous cell carcinoma10.0
48acute diarrhea10.0
49usher syndrome10.0
50klippel-feil syndrome10.0

Graphical network of the top 20 diseases related to Pseudoachondroplasia:



Diseases related to pseudoachondroplasia

Symptoms for Pseudoachondroplasia

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Symptoms by clinical synopsis from OMIM:

177170

Clinical features from OMIM:

177170

Symptoms:

 51 (show all 24)
  • short limbs/micromelia/brachymelia
  • wrist/carpal anomalies
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • delayed bone age
  • metaphyseal anomaly
  • epiphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • lordosis
  • scoliosis
  • platyspondyly
  • short foot/brachydactyly of toes
  • abnormal gait
  • articular/joint pain/arthralgia
  • osteoarthritis
  • restricted joint mobility/joint stiffness/ankylosis
  • hyperextensible joints/articular hyperlaxity
  • kyphosis
  • odontoid hypoplasia
  • genu valgum
  • genu varum

HPO human phenotypes related to Pseudoachondroplasia:

(show all 58)
id Description Frequency HPO Source Accession
1 abnormality of the hip bone hallmark (90%) HP:0003272
2 micromelia hallmark (90%) HP:0002983
3 delayed skeletal maturation hallmark (90%) HP:0002750
4 abnormality of the metacarpal bones hallmark (90%) HP:0001163
5 brachydactyly syndrome hallmark (90%) HP:0001156
6 abnormality of the metaphyses hallmark (90%) HP:0000944
7 hyperlordosis typical (50%) HP:0003307
8 arthralgia typical (50%) HP:0002829
9 osteoarthritis typical (50%) HP:0002758
10 scoliosis typical (50%) HP:0002650
11 short toe typical (50%) HP:0001831
12 joint hypermobility typical (50%) HP:0001382
13 limitation of joint mobility typical (50%) HP:0001376
14 gait disturbance typical (50%) HP:0001288
15 platyspondyly typical (50%) HP:0000926
16 hypoplasia of the odontoid process occasional (7.5%) HP:0003311
17 genu varum occasional (7.5%) HP:0002970
18 genu valgum occasional (7.5%) HP:0002857
19 kyphosis occasional (7.5%) HP:0002808
20 fragmented epiphyses HP:0100168
21 spatulate ribs HP:0012307
22 childhood onset short-limb short stature HP:0011405
23 irregular epiphyses HP:0010582
24 small epiphyses of the phalanges of the hand HP:0010236
25 short metacarpal HP:0010049
26 short distal phalanx of finger HP:0009882
27 ulnar deviation of the hand HP:0009487
28 disproportionate short-limb short stature HP:0008873
29 fragmented, irregular epiphyses HP:0005063
30 beaking of vertebral bodies HP:0004568
31 irregular carpal bones HP:0004236
32 ulnar metaphyseal irregularity HP:0004042
33 radial metaphyseal irregularity HP:0004019
34 atlantoaxial dislocation HP:0003414
35 hypoplasia of the odontoid process HP:0003311
36 limited hip extension HP:0003093
37 ulnar deviation of the wrist HP:0003049
38 short long bone HP:0003026
39 genu varum HP:0002970
40 lumbar hyperlordosis HP:0002938
41 genu valgum HP:0002857
42 flared femoral metaphysis HP:0002834
43 arthralgia HP:0002829
44 genu recurvatum HP:0002816
45 kyphosis HP:0002808
46 osteoarthritis HP:0002758
47 delayed epiphyseal ossification HP:0002663
48 scoliosis HP:0002650
49 waddling gait HP:0002515
50 cervical cord compression HP:0002341
51 carpal bone hypoplasia HP:0001498
52 joint laxity HP:0001388
53 ligamentous laxity HP:0001380
54 degenerative joint disease HP:0001379
55 limited elbow extension HP:0001377
56 brachydactyly syndrome HP:0001156
57 platyspondyly HP:0000926
58 sensory neuropathy HP:0000763

Drugs & Therapeutics for Pseudoachondroplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pseudoachondroplasia

Genetic Tests for Pseudoachondroplasia

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Genetic tests related to Pseudoachondroplasia:

id Genetic test Affiliating Genes
1 Pseudoachondroplasia22 COMP

Anatomical Context for Pseudoachondroplasia

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MalaCards organs/tissues related to Pseudoachondroplasia:

33
Bone, Thyroid, Endothelial, Heart, Breast, Liver, Cerebellum

Animal Models for Pseudoachondroplasia or affiliated genes

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MGI Mouse Phenotypes related to Pseudoachondroplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.3COL2A1, COL9A1, COL9A2, SCN8A
2MP:00053717.5COL2A1, COL9A1, COL9A2, COMP, FMOD, MATN3
3MP:00053906.4COL2A1, COL9A1, COL9A2, COMP, DCN, FMOD

Publications for Pseudoachondroplasia

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Articles related to Pseudoachondroplasia:

(show top 50)    (show all 103)
idTitleAuthorsYear
1
Acute compartment syndrome of hand resulting from radiographic contrast iohexol extravasation. (27127398)
2016
2
A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing. (25809937)
2015
3
Roles of miRNA-24 in regulating endothelial nitric oxide synthase expression and vascular endothelial cell proliferation. (25920448)
2015
4
Function, therapeutic potential and cell biology of BACE proteases: current status and future prospects. (24646365)
2014
5
Long-term follow-up study of endarterectomy versus angioplasty in patients with symptomatic severe carotid stenosis trial. (25082808)
2014
6
Effects of integrins and integrin I+vI^3 inhibitor on angiogenesis in cerebral ischemic stroke. (24939290)
2014
7
Concurrent Uveal and Vitreoretinal Lymphoma Masquerading as Anterior Uveitis. (24945618)
2014
8
HIFs enhance the transcriptional activation and splicing of adrenomedullin. (24523299)
2014
9
The role of DNA hypomethylation, histone acetylation and in vivo protein-DNA binding in Epstein-Barr virus-induced CD23 upregulation. (23583387)
2013
10
Effect of uremia and hemodialysis on platelet apoptosis. (22387580)
2013
11
Extrapulmonary lymphangioleiomyomatosis complicated by vesicovaginal fistula. (24219746)
2013
12
Pyruvate kinase M2 plays a dual role on regulation of the EGF/EGFR signaling via E-cadherin-dependent manner in gastric cancer cells. (23840737)
2013
13
Clincopathological analysis of olfactory neuroblastoma. (22331316)
2012
14
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. (21937992)
2011
15
OxLDL induced p53-dependent apoptosis by activating p38MAPK and PKCI' signaling pathways in J774A.1 macrophage cells. (21920989)
2011
16
Correlations among Helicobacter pylori infection and the expression of cyclooxygenase-2 and vascular endothelial growth factor in gastric mucosa with intestinal metaplasia or dysplasia. (20492336)
2010
17
Expression of the proteins associated with transforming growth factor-beta/Smad signaling pathway in Peutz-Jeghers syndrome]. (20423848)
2010
18
Intravitreous delivery of the corticosteroid fluocinolone acetonide attenuates retinal degeneration in S334ter-4 rats. (20220055)
2010
19
Midkine prevents ventricular remodeling and improves long-term survival after myocardial infarction. (19060126)
2009
20
Cryptic splice site in the complementary DNA of glucocerebrosidase causes inefficient expression. (18619939)
2008
21
TRPV1: a target for next generation analgesics. (19305794)
2008
22
Effectiveness and tolerability of olanzapine in the treatment of adolescents with schizophrenia and related psychotic disorders: results from a large, prospective, open-label study. (18294089)
2008
23
Isolation and characterization of a novel oncogene, amplified in liver cancer 1, within a commonly amplified region at 1q21 in hepatocellular carcinoma. (18023026)
2008
24
Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family. (17191259)
2007
25
The MRH protein Erlectin is a member of the endoplasmic reticulum synexpression group and functions in N-glycan recognition. (16531414)
2006
26
Central retinal vein occlusion secondary to an intraocular nematode. (15883297)
2005
27
Asparagine-473 residue is important to the efficient function of human dihydrolipoamide dehydrogenase. (15826505)
2005
28
Is stimulation of thyroglobulin (Tg) useful in low-risk patients with thyroid carcinoma and undetectable Tg on thyroxin and negative neck ultrasound? (15670185)
2005
29
Red wine polyphenolic compounds inhibit atherosclerosis in apolipoprotein E-deficient mice independently of effects on lipid peroxidation. (14684397)
2004
30
Dominant negative ATM mutations in breast cancer families. (11830610)
2002
31
Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome. (11681999)
2001
32
Abdominal tuberculosis: the great mimic. (11436448)
2001
33
Disc degeneration and bone density in monozygotic twins discordant for insulin-dependent diabetes mellitus. (11117299)
2000
34
Intravenous tufted angioma. (10843417)
2000
35
Sertoli cell tumor of the testis. Report of a case with imprint cytology findings. (9850662)
1998
36
Cytokine production by cryopreserved human peripheral blood mononuclear cells in response to periodontal pathogens. (9758049)
1998
37
The PEX gene: its role in X-linked rickets, osteomalacia, and bone mineral metabolism. (9386970)
1997
38
Role of phosphorylation on DNA binding and transcriptional functions of human progesterone receptors. (8662865)
1996
39
Juvenile temporal arteritis with eosinophilia: a distinct clinicopathological entity. (8832949)
1996
40
Bax homodimerization is not required for Bax to accelerate chemotherapy-induced cell death. (8943258)
1996
41
Successful pregnancy in the DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness). (7771984)
1995
42
Disruption of the dystrophin-glycoprotein complex in the cardiomyopathic hamster. (8505286)
1993
43
Surgeon's dilemma: in situ carcinoma of the female breast with special reference to limited surgery. (8435184)
1993
44
Clinical and pathological features, and the mechanism of development in severe alcoholic hepatitis, especially in comparison with acute type fulminant hepatitis. (8003136)
1993
45
The mechanism of the action of IFN-gamma and TPA on the modulation of epidermal growth factor receptors of human amnion cells. (1621011)
1992
46
Failure of c-myc gene expression in B cells of some patients with common variable immunodeficiencies. (1283307)
1992
47
Gastric carcinoma, epidermal growth factor, and epidermal growth factor receptor. (2006930)
1991
48
Association of HLA-Dw16 with rheumatoid arthritis in Yakima Indians. Further evidence for the "shared epitope" hypothesis. (1701997)
1991
49
Angioedema related to angiotensin-converting enzyme inhibitors. (2115661)
1990
50
Gastrointestinal tuberculosis. (1259919)
1976

Variations for Pseudoachondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Pseudoachondroplasia:

67 (show all 30)
id Symbol AA change Variation ID SNP ID
1COMPp.Asp290AsnVAR_007614
2COMPp.Gly299ArgVAR_007615
3COMPp.Cys328ArgVAR_007616
4COMPp.Asp349ValVAR_007618
5COMPp.Cys387GlyVAR_007625
6COMPp.Gly440GluVAR_007628
7COMPp.Gly440ArgVAR_007629
8COMPp.Cys468TyrVAR_007632
9COMPp.Asp472TyrVAR_007634
10COMPp.Asp473GlyVAR_007635rs28936669
11COMPp.Asp482GlyVAR_007637
12COMPp.Asp518AsnVAR_007639
13COMPp.Thr585MetVAR_007641
14COMPp.Thr585ArgVAR_007642
15COMPp.Cys348ArgVAR_017102
16COMPp.Gly719AspVAR_017103
17COMPp.Pro234SerVAR_066790
18COMPp.Asp290GlyVAR_066791
19COMPp.Asp326TyrVAR_066796
20COMPp.Asp378ValVAR_066803
21COMPp.Cys387ArgVAR_066807
22COMPp.Asp446AsnVAR_066815
23COMPp.Cys448SerVAR_066816
24COMPp.Asp473HisVAR_066819
25COMPp.Asp475AsnVAR_066820
26COMPp.Asp507GlyVAR_066822
27COMPp.Asp511GlyVAR_066823
28COMPp.Asp515GlyVAR_066824
29COMPp.Thr529IleVAR_066825
30COMPp.Gly719SerVAR_066828

Clinvar genetic disease variations for Pseudoachondroplasia:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1COMPCOMP, 3-BP DEL, (GAC)2deletionPathogenic
2COMPNM_000095.2(COMP): c.1417_1419delGAC (p.Asp473del)deletionPathogenicrs312262897GRCh37Chr 19, 18896845: 18896847
3COMPNM_000095.2(COMP): c.1586C> T (p.Thr529Ile)single nucleotide variantPathogenicrs312262903GRCh37Chr 19, 18896565: 18896565
4COMPNM_000095.2: c.1679A> Gsingle nucleotide variantPathogenic
5COMPNM_000095.2(COMP): c.1747G> A (p.Glu583Lys)single nucleotide variantPathogenicrs312262899GRCh37Chr 19, 18895873: 18895873
6COMPNM_000095.2(COMP): c.1754C> A (p.Thr585Lys)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
7COMPNM_000095.2(COMP): c.1754C> G (p.Thr585Arg)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
8COMPNM_000095.2(COMP): c.1754C> T (p.Thr585Met)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
9COMPNM_000095.2(COMP): c.1760A> G (p.His587Arg)single nucleotide variantPathogenicrs312262901GRCh37Chr 19, 18895860: 18895860
10COMPNM_000095.2(COMP): c.2155G> A (p.Gly719Ser)single nucleotide variantPathogenicrs312262904GRCh37Chr 19, 18893936: 18893936
11COMPNM_000095.2(COMP): c.1414G> T (p.Asp472Tyr)single nucleotide variantPathogenicrs137852650GRCh37Chr 19, 18896850: 18896850
12COMPNM_000095.2(COMP): c.1403G> A (p.Cys468Tyr)single nucleotide variantPathogenicrs137852651GRCh37Chr 19, 18896861: 18896861
13COMPCOMP, 3-BP DEL, 459TCA, SER459DELdeletionPathogenic
14COMPCOMP, 3-BP DEL, (GAC)4deletionPathogenic
15COMPNM_000095.2(COMP): c.982T> C (p.Cys328Arg)single nucleotide variantPathogenicrs137852653GRCh37Chr 19, 18898453: 18898453
16COMPNM_000095.2(COMP): c.1405_1407GAC[7] (p.Asp473_Asn474insAspAsp)NT expansionPathogenicGRCh37Chr 19, 18896845: 18896847
17COMPNM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp)duplicationPathogenicrs312262898GRCh37Chr 19, 18896845: 18896847
18COMPNM_000095.2(COMP): c.2156G> A (p.Gly719Asp)single nucleotide variantPathogenicrs137852655GRCh37Chr 19, 18893935: 18893935
19COMPNM_000095.2(COMP): c.1042T> C (p.Cys348Arg)single nucleotide variantPathogenicrs137852656GRCh37Chr 19, 18898393: 18898393
20COMPCOMP, EX9DELdeletionPathogenic

Expression for genes affiliated with Pseudoachondroplasia

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Search GEO for disease gene expression data for Pseudoachondroplasia.

Pathways for genes affiliated with Pseudoachondroplasia

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Pathways related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathwaysScoreTop Affiliating Genes
19.6COL9A1, COL9A3
2
Show member pathways
9.4ACAN, FMOD
39.3COL9A1, COL9A2, COL9A3
4
Show member pathways
8.8ACAN, DCN, FMOD
5
Show member pathways
8.8ACAN, DCN, FMOD
68.5ACAN, COL2A1, DCN
7
Show member pathways
8.5COL2A1, COL9A1, COL9A2, COL9A3
88.5COL2A1, COL9A1, COL9A2, COL9A3
9
Show member pathways
8.4ACAN, DCN, FMOD, SLC26A2
108.2COL2A1, COL9A1, COL9A2, COL9A3, COMP
11
Show member pathways
8.2COL2A1, COL9A1, COL9A2, COL9A3, COMP
12
Show member pathways
8.2COL2A1, COL9A1, COL9A2, COL9A3, COMP
13
Show member pathways
8.0ACAN, COL2A1, COL9A1, COL9A2, COL9A3
14
Show member pathways
8.0ACAN, COL2A1, COL9A1, COL9A2, COL9A3
157.7ACAN, COL2A1, COMP, DCN, FMOD
167.0ACAN, COL9A1, COL9A2, COL9A3, COMP, DCN
17
Show member pathways
6.2ACAN, COL2A1, COL9A1, COL9A2, COL9A3, COMP

GO Terms for genes affiliated with Pseudoachondroplasia

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Cellular components related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.3ACAN, DCN
2collagen type IX trimerGO:00055949.2COL9A1, COL9A2, COL9A3

Biological processes related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:00020629.6COL2A1, COL9A1
2glycosaminoglycan metabolic processGO:00302039.6DCN, FMOD
3skeletal system developmentGO:00015019.5COL2A1, COL9A2
4collagen fibril organizationGO:00301999.1ACAN, COL2A1, FMOD
5collagen catabolic processGO:00305748.7COL2A1, COL9A1, COL9A3
6extracellular matrix disassemblyGO:00226177.3ACAN, COL2A1, COL9A1, COL9A2, COL9A3, DCN

Sources for Pseudoachondroplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet